Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_assertion> ?p ?o ?g. }
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- NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_assertion type Assertion NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_head.
- NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_assertion description "[DA type 5D (DA5D) is a rare, autosomal-recessive DA previously defined by us and is characterized by congenital contractures of the hands and feet, along with distinctive facial features, including ptosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_provenance.
- NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_assertion evidence source_evidence_literature NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_provenance.
- NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_assertion SIO_000772 23261301 NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_provenance.
- NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_assertion wasDerivedFrom befree-20140225 NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_provenance.
- NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_assertion wasGeneratedBy ECO_0000203 NP436224.RAjXX6QppSbASWuF8QtPdm-Fp05eefRgQRdIBLfvlHVko130_provenance.